This mutation, identified in an ENU mutagenesis screen, comprises a T to G transversion in exon 17 that is predicted to result in replacement of leucine by arginine at amino acid position 1105, in the tyrosine kinase domain of the receptor (L1105R).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count